Table 3.
Extrahepatic manifestations in hepatocerebral MTDPS patients (n = 23)
| ID | Gene | Neuromuscular | Gastrointestinal | Metabolism | Others | ||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| DD | Hy | Sz | Ny | SG | Id | Psy | FMD | Dy | WML | FD | Vo | Di | FTT | Hg | LA | Ht | PH | CM | Ur | ||
| Pt68EB | MPV17 | + | + | – | – | – | – | – | – | – | – | + | + | + | + | – | – | – | – | – | – |
| Pt68YB | MPV17 | – | + | – | – | – | – | – | – | – | – | – | – | – | + | – | + | – | – | – | – |
| Pt292 | MPV17 | – | – | – | – | – | – | – | – | – | + | + | + | + | + | + | + | – | – | + | – |
| Pt339 | MPV17 | – | – | + | – | + | + | – | – | – | + | – | – | – | + | + | + | – | – | – | – |
| Pt936 | MPV17 | + | + | – | – | – | – | – | – | – | – | + | + | + | + | + | + | – | + | – | – |
| Pt1244 | MPV17 | + | + | + | – | – | – | – | – | – | – | + | – | – | + | + | + | – | + | – | – |
| Pt1273 | MPV17 | + | – | – | – | – | – | – | – | – | NA | + | + | – | + | + | + | – | + | – | + |
| Pt1702 | MPV17 | – | – | + | – | – | + | + | + | + | + | – | – | – | + | + | + | – | – | – | – |
| Pt1943 | MPV17 | + | + | – | – | – | – | – | – | – | – | + | – | – | + | + | + | – | + | – | – |
| Pt2017EB | MPV17 | + | – | – | – | – | + | – | – | – | – | – | + | – | – | + | – | – | – | – | – |
| Pt2017YS | MPV17 | – | – | – | – | – | – | – | – | – | – | – | + | – | – | + | – | – | – | – | – |
| Pt2017ES | MPV17 | – | – | – | – | – | – | – | – | – | – | – | + | – | – | + | – | – | – | – | – |
| Pt2170 | MPV17 | + | – | + | – | + | – | – | – | – | + | + | – | + | + | + | + | – | – | – | – |
| Pt50YS | DGUOK | – | – | – | – | – | – | – | – | – | NA | – | – | – | NA | + | + | + | – | – | – |
| Pt50ES | DGUOK | + | + | – | + | – | – | – | – | – | NA | – | – | – | + | NA | NA | – | – | – | – |
| Pt66 | DGUOK | + | + | – | + | – | – | – | – | – | NA | + | – | – | + | – | + | – | + | – | – |
| Pt74 | POLG | + | + | – | – | – | – | – | – | – | – | + | + | + | + | – | + | – | – | – | – |
| Pt94 | MICOS13 | – | – | – | – | – | – | – | – | – | – | + | – | – | + | – | + | – | – | – | – |
| Pt63 | ND | + | – | – | – | – | – | – | – | – | – | – | + | – | + | + | – | – | – | – | – |
| Pt92 | ND | – | – | – | – | – | – | – | – | – | NA | – | – | – | + | – | NA | – | – | – | – |
| Pt148 | ND | – | – | – | – | – | – | – | – | – | + | + | + | – | + | + | + | – | – | – | – |
| Pt1156 | ND | + | – | – | – | – | – | – | – | – | NA | – | – | – | + | + | + | – | – | – | – |
| Pt1589 | ND | + | NA | – | NA | NA | NA | NA | NA | NA | NA | – | NA | NA | NA | NA | + | – | NA | NA | NA |
| Total | 13/23 | 8/22 | 4/23 | 2/22 | 2/22 | 3/22 | 1/22 | 1/22 | 1/22 | 5/16 | 11/23 | 10/22 | 5/22 | 18/21 | 15/21 | 16/21 | 1/23 | 5/22 | 1/22 | 1/22 | |
CM, cardiomyopathy; DD, developmental delay; Di, diarrhea; Dy, dysarthria; EB, elder brother; ES, elder sister; FD, feeding difficulties; FMD, fine motor dysfunction; FTT, failure to thrive; Hg, hypoglycemia; Ht, hypothermia; Hy, hypotonia; Id, intellectual disability; LA, lactic acidosis; NA, not available; ND, not detected; Ny, nystagmus; PH, pulmonary hypertension; Psy, psychosis; SG, spastic gait; Sz, seizure; Ur, urolithiasis; Vo, vomiting; WML, white matter lesion; YB, younger brother; YS, younger sister